[Genetic factors associated with long COVID]. / Factores genéticos asociados a long COVID.

INTRODUCTION: The variability in expression and evolution of COVID is not completely explained by clinical factors. In fact, genetic factors play an important role. Moreover, it is unknown whether the genetic factor that contribute to susceptibility and severity are also involved in the onset and evolution of long-COVID. The objective of this review is to gather information from literature to understand which genetic factors are involved in the onset of persistent COVID. MATERIAL AND METHODS: Systematic review in PubMed and bioRxiv and medRxiv repositories based on MeSH-descriptors and MeSH-terms related to COVID and genetic factors. Using these terms 2715 articles were pooled. An initial screening performed by authors independently, selected 205 articles of interest. A final deeper screening a total of 85 articles were chosen for complete reading and summarized in this review. RESULTS: Although ACE2 and TMPSS6 are involved in COVID susceptibility, their involvement in long-COVID has not been found. On the other hand, the severity of the disease and the onset of long-COVID has been associated with different genes involved in the inflammatory and immune response. Particularly interesting has been the association found with the FOXP4 locus. CONCLUSIONS: Although studies on long-COVID are insufficient to fully comprehend the cause, it is clear that the current identified genetic factors do not fully explain the progression and onset of long-COVID. Other factors such as polygenic action, pleiotropic genes, the microbiota and epigenetic changes must be considered and studied.

Genograma y árbol genealógico / Genogram and genealogical tree

El genograma y el árbol genealógico son herramientas de representación gráfica de la familia que, aunque comparten similitudes, tienen una funcionalidad y significados diferentes. Si bien el objetivo básico del primero es representar la estructura familiar y las relaciones entre sus miembros, el segundo pretende la identificación del patrón de herencia y de rasgos heredables, aunque su uso y aplicaciones van mucho más allá. Por otra parte, la representación gráfica en ambas herramientas se encuentra normalizada con símbolos similares, aunque algunos de ellos con significado distinto. Tanto una como otra, son utilizadas por el médico de familia, y éste debe tener las competencias necesarias para su manejo efectivo. En este trabajo se pretende mejorar dichas competencias al definir las principales diferencias de una y otra herramienta, establecer los elementos básicos para la construcción e interpretación del árbol genealógico, además de señalar su utilidad clínica y sus usos más frecuentes (AU)

A genogram and a genealogical tree are graphic representations of families that share similarities but have different functionality and meanings. While the first basic objective is to represent the family structure and the relationships between its members, the second seeks to identify the inheritance pattern and inheritable traits, although its use and applications go much further. Graphic representation is normalized with similar symbols, although some of them have different meanings. Both are used by family doctors, and they must have the necessary skills for their effective management. This work aims to improve these skills by defining the main differences between the two tools, establishing the basic elements for the construction and interpretation of a genealogical tree, and pointing out its clinical utility and its most frequent uses (AU)

Linear and geometric morphometric analyses of variation of the plectrum in four species of bess beetles, tribe Proculini (Coleoptera: Passalidae).

Bess beetles are sapro-xillophagous insects that inhabit decaying logs. They display sub-social behavior and acoustic communication. Adults produce sounds with an abdomino-alary stridulatory system. The sixth abdominal tergum has lateral protuberances with spines (pars stridens), whereas the hind wings have spines in the radial cell (plectrum). The potential taxonomic utility of these spines has not been studied. We evaluated the variation of spines in the plectrum of adult females sampling four species of Proculini using traditional and geometric morphometric methods. We divided the plectrum into five zones to compare the density, size and shape of spines among zones and among species comparing each zone separately. Spine shape and size were quantified with 2D cartesian coordinates and four variables from SEM micrographs. Separate univariate and multivariate analyses of variance revealed that the size, density and shape of spines is different among zones in each of the four species. Also, spine shape and size in all zones is different among species, which would imply that plectrum spines might have taxonomic utility. Additionally, disparity analyses showed that the peripheral zones have a higher variability, and the disparity values in the middle and apex zones are higher in the two species with a wide distribution range.

Analytical and clinical comparison of different immunoassay systems for the detection of antiphospholipid antibodies.

INTRODUCTION: We evaluated analytical and clinical performances of IgG and IgM anticardiolipin (aCL) antibodies and anti-ß2-glycoprotein I (a-ß2GpI) antibodies and upper limit reference ranges (99th percentiles) in comparison with manufacturer's cutoff values with different commercial methods. METHODS: We assayed aCL and a-ß2GpI in serum samples from 30 healthy individuals, 77 patients with antiphospholipid syndrome (APS) diagnosed according to the Sydney criteria, 51 patients with autoimmune diseases, eight patients with previous thrombotic events, six patients with other diseases, and 18 patients with infectious diseases, using ELISA Inova Diagnostics; EliA Phadia Laboratory Systems; CliA Zenit-RA; and CliA Bio-Flash. RESULTS: Anticardiolipin and a-ß2GpI IgG and IgM immunoassays showed good analytic performances with both 99th percentile and manufacturer's cutoff reference values. Our results showed fair to moderate agreement among assays. In-house cutoff values gave significantly better performances only for a-ß2GpI IgG with all the immunoassays analyzed with the exception of Inova CliA Bio-Flash where we obtained the same performances with in-house and manufacturer's cutoffs. CONCLUSIONS: By guidelines, all laboratories are strongly advised to validate/verify the manufacturer's cutoff values. We recommend establishing low-positive, medium-/high-positive, and high-positive CliA IgG aCL and a-ß2GpI ranges in order to help clinicians in the diagnosis and treatment of APS.

Anti-cardiolipin and anti-ß2-glycoprotein I antibodies: normal reference ranges in northwestern Italy.

Laboratory tests for anticardiolipin antibodies (aCL) and anti-ß2glycoprotein I antibodies (a-ß2GPI) face problems common to many autoantibody assays: the lack of a reference standard and the need for each laboratory to assess assay-specific cut-off values. The aims of the study were to evaluate the reference range upper limits (99th percentile) used for aCL and a-ß2GPI in the northwest of Italy and to investigate the analytical performances of these assays with the newly obtained reference ranges. We assayed aCL and a-ß2GPI in 104 serum samples from patients without a history of thrombosis, pregnancy morbidity, tumours, infections and/or autoimmune diseases (30 males and 74 non-pregnant females). We tested all the commercial assays available in our regions (i.e. Orgentec Diagnostika, Aesku Diagnostics and Inova Diagnostics ELISA; CliA Zenit-RA and EliA Phadia Laboratory Systems). A further 30 serum samples, including 10 from healthy subjects, 10 from antiphospholipid syndrome (APS) patients and 10 from septic patients were assessed to investigate the analytical performance of the obtained cut-off limits. Reference range upper limits obtained with the commercial kits differ among assays and from the values reported by the manufacturer. Moreover, normal reference ranges calculated for IgG and IgM aCL differed from the arbitrary selected laboratory classification values suggested in the guidelines of 40 GPL and MPL.

Tendinitis calcificante atípica del tendón del músculo glúteo mayor con anormalidad ósea cortical / Atypical calcific tendinitis of the tendon of the gluteus maximus muscle with cortical bone abnormality

La tendinitis calcificante del músculo glúteo mayor se puede acompañar de erosión de la cortical del fémur a nivel de su inserción. Se trata de una patología infrecuente y autolimitada, pero es importante reconocer el patrón de las pruebas complementarias para evitar pruebas diagnósticas o actuaciones innecesarias. Presentamos a una mujer de 36 años con dolor en la cara lateral de la cadera y el muslo izquierdos de 4 meses de evolución. Las radiografías de fémur mostraban una lesión lítica con matriz calcificante en su interior, mientras que la TAC demostraba ruptura de la cortical externa. Se amplió el estudio para descartar malignidad, realizando radiografía de tórax, mamografía, hemograma, bioquímica y marcadores tumorales, que resultaron normales, y gammagrafía ósea, que mostró hipercaptación en la metáfisis proximal. Se adoptó una actitud conservadora con mejoría progresiva hasta la resolución del cuadro. La TAC realizada a los 6 meses mostró ausencia de calcificaciones y de erosión cortical (AU)

The calcifying tendinitis of the gluteus maximus is possible to being in association of erosion on the extern of the cortical of the femur at the insertion of the muscle. It is an unusual and self-limited pathology, but it is important to recognize the patron of the image features to avoid unnecessary diagnostic probes or actuations. We present a 36-year-old woman with a 4 months pain in the lateral side of her left hip and thigh. The radiographies showed a lytic lesion with calcifying matrix inside, while the CT showed external cortical erosion. The study was amplified to rule out malignity, performing chest radiography, mammography, hemogram, bioquimic and tumoral markers, which were normal, and isotope bone scan, that showed an area of increased activity in the proximal metaphysis. It was taken a conservative attitude, with progressive recovery until the resolution of the problem. The CT six months later demonstrated absence of calcifications and cortical erosion (AU)

Role of FK506-binding protein 51 in the control of apoptosis of irradiated melanoma cells.

FK506-binding protein 51 (FKBP51) is an immunophilin with isomerase activity, which performs important biological functions in the cell. It has recently been involved in the apoptosis resistance of malignant melanoma. The aim of this study was to investigate the possible role of FKBP51 in the control of response to ionizing radiation (Rx) in malignant melanoma. FKBP51-silenced cells showed reduced clonogenic potential after irradiation compared with non-silenced cells. After Rx, we observed apoptosis in FKBP51-silenced cells and autophagy in non-silenced cells. The FKBP51-controlled radioresistance mechanism involves NF-kappaB. FKBP51 was required for the activation of Rx-induced NF-kappaB, which in turn inhibited apoptosis by stimulating X-linked inhibitor of apoptosis protein and promoting authophagy-mediated Bax degradation. Using a tumor-xenograft mouse model, the in vivo pretreatment of tumors with FKBP51-siRNA provoked massive apoptosis after irradiation. Immunohistochemical analysis of 10 normal skin samples and 80 malignant cutaneous melanomas showed that FKBP51 is a marker of melanocyte malignancy, correlating with vertical growth phase and lesion thickness. Finally, we provide evidence that FKBP51 targeting radiosensitizes cancer stem/initiating cells. In conclusion, our study identifies a possible molecular target for radiosensitizing therapeutic strategies against malignant melanoma.

Variabilidad y coste de la terapia antihipertensiva / Variability and cost of anti-hypertensive treatment

Objetivo. Conocer la variabilidad en el patrón de uso de los fármacos antihipertensivos (ATH) entre las diferentes Zonas Básicas de Salud que componen un Área de Gestión Sanitaria, así como qué ATH son los más usados y qué coste farmacológico directo suponen. Material y métodos. Diseño: estudio descriptivo transversal. Ámbito de estudio: Atención Primaria, Área rural. Sujetos: 145.498 habitantes pertenecientes a las 7 Zonas Básicas de Salud que componen el Área de Gestión Sanitaria de Osuna. Marco temporal: 1 de septiembre de 1999 a 31 de agosto de 2000. Variables: dosis definida por habitante (DHD).Dosis diaria definida (DDD). Precio de venta al público. Fuente de datos: fichero de facturación mensual de recetas remitido desde el Servicio de Asistencia Farmacéutica del Servicio Andaluz de Salud. Resultados. El coste total de ATH fue de 587.710.110 pesetas, lo que representa un coste de 27.694 ptas/año por DDD. El análisis por grupos terapéuticos mostró gran variabilidad y no pudo establecerse un patrón uniforme de comparación. El mayor rango de variación sobre la media de la dosis definida por habitante fue para los inhibidores de la enzima de conversión de la angiotensina (IECA) (17,5 DHD), seguido de calcioantagonistas (11,5 DHD) y diuréticos (10,5 DHD). El grupo más usado fue el de los IECA (34,6 por ciento), seguido de calcioantagonistas (20,2 por ciento) y diuréticos no asociados (19,1 por ciento). Enalapril (18,1 por ciento), amlodipino (11,1 por ciento) y furosemida (5,3 por ciento) explican más de la tercera parte de las prescripciones. Conclusiones. Los grupos más recomendados por los Consensos Internacionales tienen una menor representación de la que cabría esperar. Se debería profundizar no sólo en el establecimiento de consensos, sino en la difusión efectiva de las conclusiones de los mismos (AU)

[Urinary tract infections in children]. / Infeccion de vias urinarias en ninos.

PIP: The incidence of urinary tract infection (UTI) varies depending on the age of the child. In 1984 a review of 1000 school children in the city of Santo Domingo found an incidence of 0.4%. In a prospective study 109 patients were investigated who presented at the outpatient consulting ward of nephrology of the Robert Reid Cabral Hospital, Santo Domingo, Dominican Republic, with fever and/or clinical symptoms suggestive of UTI. Uroculture was taken by means of suprapubic punction in all those cases which had not received antimicrobial therapy at least 72 hours before taking the specimens. The signs of UTI in the 109 patients were dysuria, urinary incontinence, and enuresis. 41 patients had urocultures positive for UTI bacteria, while the remaining 68 children's urocultures did not show bacterial growth, therefore they were judged not to have UTI. In the 41 patients with UTI the etiologic agents were Escherichia coli in 20 (48.78%), Enterobacter in 14 (34.15%), Klebsiella in 4 (9.76%), Staphylococcus in 4 (9.76%), Pseudomonas in 4 (9.76%), and Salmonella in 3 (7.32%). In all cases of positive uroculture more than 10 leukocytes were observed in the urinary sediment. Only 15 of the 41 patients with positive uroculture had leukocytosis. Fever as a clinical symptom was found in 7 of the 109 cases, and in 3 of these bacteria were grown in the uroculture. In 40 patients out of 109 the fever was associated with clinical signs of UTI, finding positive uroculture in 20 of these patients.^ieng

[The lipid profile in children with nephrosis]. / Perfil lipídico en niños con nefrosis.

The serum lipid levels of 25 children with SNI of LGM were quantified. All cases showed total cholesterol and triglyceride levels above the 95% percentile for both their age and sex (417 +/- 119 mg/dL and 448 +/- 313 mg/dL respectively). Ninety-two percent of the children showed LBD above the 95 percentile for their and sex (307 +/- 108 mg/dL) and 72% showed LAD in the normal lower limit, under the fifth percentile for their age and sex (26.9 +/- 13.7 mg/dL). A important percentage of the patients showed elevated LMBD (90.8 +/- 61.0 mg/dL). A direct proportional relationship occurred between total cholesterol and LBD (r = + 0.854), yet, an inverted relationship was not seen between total cholesterol and LAD (r = -0.315) nor between total cholesterol and serum albumin (r = -0.248).

Segmental spinal instrumentation in the early fixation of the fracture-dislocations of the dorsal and lumbar spine (S.S.1).

A total of 24 patients were admitted to the Department of Neurosurgery and Traumatology between April 1, 1985 and March 31, 1987 for fracture-dislocation of the dorsal and lumbar spine. Review of the observation of the patients is given from their hospitalization to the surgical indication. The patients with unstable spinal fracture were operated independent of their neurological status. The operative technique which contains in fixing the spine according to the operative technique elaborated by Edwardo Luque is reviewed in detail. The advantage of their method is that bent Steinmann rods are used for fixation of the spine. A detailed review of the postoperative treatment and the complications is given.